Pharmacogenetics and Pharmacogenomics: Impact on Drug Discovery and Clinical Care

Minoli Perera*, Federico Innocenti

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter


This chapter emphasizes the impact of genetics and genomics on drug discovery and development and the practice of health care. With the end of the Human Genome Project (HGP) and the wealth of available information, personalized medicine has assumed an important role, but the generalization into clinical applications of pharmacogenomics is challenging. This is due to the complexity of disease (disease heterogeneity, i.e., several phenotypes in a single disease), genetic involvement (several genes contributing to a single phenotype), and the difficulty in prospective validation of pharmacogenetic markers in controlled trials. In pharmacogenetics, most research involves determining the effect of polymorphisms, changes in the genetic code that occur in at least 1% of the population, on a given drug response. A polymorphism may be a single nucleotide change in the DNA sequence (single nucleotide polymorphism, SNP), an insertion or deletion of nucleotides or a change in the number of gene copies. While the focus of early pharmacogenetic investigations was oriented towards functional polymorphisms found in exons (i.e., coding regions), functional variation can be found in any area of the gene including introns, untranslated regions (UTRs), upstream of the transcriptional start site, and sometimes in nearby genes. The use of pharmacogenetics in current clinical care, its ethical and legal implications, pharmacogenetic candidates, and publicly available web-based genetic resources are discussed.

Original languageEnglish (US)
Title of host publicationMolecular Diagnostics
Subtitle of host publicationSecond Edition
PublisherElsevier Ltd.
Number of pages21
ISBN (Print)9780123745378
StatePublished - Sep 1 2009

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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